rs926328

Variant names:

• chr22-43110259-T-A
• rs926328

Your query was ambiguous. Multiple possible variants found:

• chr22-43110259-T-A
• chr22-43110259-T-C
• chr22-43110259-T-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.535 in 152,164 control chromosomes in the GnomAD database, including 25,382 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.54 (25382 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.161
• Publications: 5 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.864 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.535 AC: 81371 AN: 152046 Hom.: 25336 Cov.: 33

Gnomad AFR AF: 0.872

Gnomad AMI AF: 0.292

Gnomad AMR AF: 0.507

Gnomad ASJ AF: 0.470

Gnomad EAS AF: 0.545

Gnomad SAS AF: 0.506

Gnomad FIN AF: 0.340

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.375

Gnomad OTH AF: 0.530

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.535 AC: 81459 AN: 152164 Hom.: 25382 Cov.: 33 AF XY: 0.533 AC XY: 39659 AN XY: 74404

African (AFR) AF: 0.872 AC: 36216 AN: 41540

American (AMR) AF: 0.507 AC: 7747 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.470 AC: 1632 AN: 3470

East Asian (EAS) AF: 0.544 AC: 2816 AN: 5176

South Asian (SAS) AF: 0.505 AC: 2433 AN: 4818

European-Finnish (FIN) AF: 0.340 AC: 3596 AN: 10590

Middle Eastern (MID) AF: 0.493 AC: 145 AN: 294

European-Non Finnish (NFE) AF: 0.375 AC: 25498 AN: 67962

Other (OTH) AF: 0.525 AC: 1111 AN: 2116

Alfa AF: 0.451 Hom.: 2249

Bravo AF: 0.560

Asia WGS AF: 0.565 AC: 1965 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.3
DANN	Benign	0.60
PhyloP100		-0.16
PromoterAI		0.019	Neutral

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs926328; hg19: chr22-43506265;